Questions on Genetic Disorders
20 multiple-choice questions (with five alternatives: A–E) on Genetic Disorders, followed by the answer key at the end:
Multiple-Choice Questions: Genetic Disorders
1. Which of the following is a genetic disorder caused by an extra copy of chromosome 21?
A) Turner syndrome
B) Klinefelter syndrome
C) Down syndrome
D) Hemophilia
E) Tay-Sachs disease
2. Cystic fibrosis primarily affects which body system?
A) Digestive
B) Nervous
C) Circulatory
D) Respiratory
E) Skeletal
3. What type of inheritance pattern does hemophilia typically follow?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked dominant
D) X-linked recessive
E) Y-linked
4. Sickle cell anemia is caused by a mutation in the gene that codes for:
A) Hemoglobin
B) Insulin
C) Melanin
D) Collagen
E) Keratin
5. Phenylketonuria (PKU) results from a defect in metabolizing which amino acid?
A) Tyrosine
B) Phenylalanine
C) Lysine
D) Glutamate
E) Tryptophan
6. Tay-Sachs disease is most common among people of which ancestry?
A) Scandinavian
B) African
C) Ashkenazi Jewish
D) South Asian
E) Native American
7. Huntington's disease is inherited in which manner?
A) Autosomal recessive
B) Autosomal dominant
C) X-linked dominant
D) Mitochondrial
E) Multifactorial
8. Which genetic disorder is characterized by progressive muscle weakness and affects mostly boys?
A) Cystic fibrosis
B) Marfan syndrome
C) Duchenne muscular dystrophy
D) Tay-Sachs disease
E) Huntington’s disease
9. Which chromosomal abnormality results in Turner syndrome?
A) XXY
B) Trisomy 18
C) Monosomy X
D) XXX
E) XY
10. Which disorder is associated with the inability to clot blood properly?
A) Hemophilia
B) Thalassemia
C) Color blindness
D) Cystic fibrosis
E) Down syndrome
11. Color blindness is often inherited as:
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) X-linked dominant
E) Mitochondrial
12. Which of the following is a sex-linked disorder?
A) Sickle cell anemia
B) PKU
C) Cystic fibrosis
D) Hemophilia
E) Tay-Sachs
13. A karyotype is used to detect:
A) Enzyme deficiencies
B) Blood pressure issues
C) Chromosomal abnormalities
D) Viral infections
E) Gene therapy success
14. Which of the following disorders is caused by a single gene mutation?
A) Diabetes
B) Huntington’s disease
C) Asthma
D) Cancer
E) Autism
15. What is the most common fatal genetic disorder in the United States?
A) Tay-Sachs disease
B) Huntington’s disease
C) Sickle cell anemia
D) Cystic fibrosis
E) Hemophilia
16. Klinefelter syndrome results in males having which genotype?
A) XY
B) XX
C) XO
D) XXY
E) XYY
17. What disorder is caused by a deletion on chromosome 5 and is also called "cry of the cat" syndrome?
A) Cri-du-chat
B) Edwards syndrome
C) Turner syndrome
D) Angelman syndrome
E) Marfan syndrome
18. Which of these disorders is inherited from mitochondrial DNA?
A) Hemophilia
B) Leber’s hereditary optic neuropathy
C) Huntington’s disease
D) Tay-Sachs disease
E) Marfan syndrome
19. Which genetic disorder affects connective tissue and often results in tall stature and long limbs?
A) PKU
B) Tay-Sachs
C) Marfan syndrome
D) Sickle cell
E) Hemophilia
20. Thalassemia affects the production of:
A) Insulin
B) Platelets
C) White blood cells
D) Hemoglobin
E) Hormones
Answer Key:
1. C
2. D
3. D
4. A
5. B
6. C
7. B
8. C
9. C
10. A
11. C
12. D
13. C
14. B
15. D
16. D
17. A
18. B
19. C
20. D
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